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Nature Genetics|March 4, 2000
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisV L Ruiz-Perez, S E Ide, T M Strom, et al.Human Molecular Genetics|April 1, 1997
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)P S Rowe, C L Oudet, F Francis, et al.Human Genetics|November 17, 2016
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismNuria C Bramswig, H-J Lüdecke, M Pettersson, et al.Clinical Genetics|December 17, 2015
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionI Parenti, C Gervasini, J Pozojevic, et al.Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.Pageof 5